Phenotype #0000058502

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00078743
Associated disease	MMD3
Phenotype details	iliopsoas MRC 4, no quadriceps atrophy, quadriceps MRC 4, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 5400; >72y walking (-HP:0006957)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	72y (72 years)
Age/Diagnosis	-
Age/Onset	51y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2010-02-14 22:37:07 +01:00 (CET)
Date last edited	2011-03-18 17:14:57 +01:00 (CET)

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